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Standards Ontologies Notations
progressive myoclonus epilepsy

Summary
Synonym
  • PME
  • progressive myoclonic epilepsy
Definition
A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death.
Super Class
variable age at onset electroclinical syndrome
Disease Ontology
DOID:891
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
950 SCARB2 scavenger receptor class B member 2
7957 EPM2A EPM2A glucan phosphatase, laforin
10133 OPTN optineurin
10501 SEMA6B semaphorin 6B
Displaying all 3 entries
Gene ID Gene Symbol Description Source
12492 Scarb2 scavenger receptor class B, member 2
13853 Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
20359 Sema6b sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B
Displaying all 3 entries
Gene ID Gene Symbol Description Source
84609 Sema6b semaphorin 6B
114005 Epm2a EPM2A glucan phosphatase, laforin
117106 Scarb2 scavenger receptor class B, member 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
37007 Sema1b Semaphorin 1b
246538 Sema2b Semaphorin 2b
Displaying all 7 entries
Gene ID Gene Symbol Description Source
173351 smp-1 Sema domain-containing protein;Semaphorin-1A
176673 scav-3 Sensory neuron membrane protein 2
176787 scav-2 SCAVenger receptor (CD36 family) related
180812 scav-1 SCAVenger receptor (CD36 family) related
181200 scav-5 SCAVenger receptor (CD36 family) related
181429 scav-4 SCAVenger receptor (CD36 family) related
184107 scav-6 SCAVenger receptor (CD36 family) related
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024